Repeat Cardiac Transplant Indicated by Severe Cardiac Allograft Vasculopathy in a Patient With Danon Disease.

Danon disease is a rare, X-linked dominant, lysosomal storage disorder, presenting with cardiomyopathy mostly in adolescent men. Male patients face a high mortality rate and rarely live to the age of 25 years unless they receive a heart transplant. Because they generally undergo heart transplantation at a young age, many patients ultimately face both short- and long-term complications. We present a 32-year-old man diagnosed with Danon disease; a nonsense mutation in the LAMP-2 gene. Progressive heart failure symptoms resulted in initial heart transplant at age 27 years. He subsequently developed severe cardiac allograft vasculopathy that led to graft failure requiring a redo orthotopic heart transplant. This is one of only two reported Danon disease cases described to date surviving repeat orthotopic heart transplants. We present this case to highlight the importance of heart transplantation in the management of Danon disease, to emphasize the risk of cardiac allograft vasculopathy post-transplant, and to discuss management strategies.

Total 12-Lead QRS Voltage in Patients Having Orthotopic Heart Transplantation for Heart Failure Caused by Adriamycin-Induced Cardiomyopathy.

OBJECTIVE: Although several studies have described the effects of adriamycin on the heart, electrocardiographic total 12-lead QRS voltage (distance in millimeters from the peak of the R wave to the nadir of either the Q or S wave, whichever was deeper, with 10 mm [1 mV] being standard) both before and after orthotopic heart transplantation (OHT) has not been reported. This study describes the total 12-lead QRS voltage in 8 patients studied at Baylor University Medical Center at Dallas, from 1994 to June 2018, who underwent OHT for severe heart failure caused by anthracycline-induced cardiomyopathy. METHOD: Prior to OHT, the total 12-lead non-paced QRS voltages ranged from 86 to 189 mm (mean 125 ± 56) and for paced QRS voltages from 82 to 113 mm (mean 97 ± 15). The total 12-lead QRS voltages post-OHT ranged from 100 to 190 mm (mean 130 ± 30). Total 12-lead QRS voltages were lower in patients with a pacemaker than without. RESULTS/CONCLUSION: These low voltages are like those found in patients with carcinoid syndrome, severe cardiac adiposity, cardiac amyloidosis, and cardiac sarcoidosis.

Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies.

BACKGROUND: Primary cardiac angiosarcomas are rare, but they are the most aggressive type of primary cardiac neoplasms. When patients do present, it is with advanced pulmonary and/or cardiac symptoms. Therefore, many times the correct diagnosis is not made at the time of initial presentation. These patients have metastatic disease and the vast majority of these patients die within a few months after diagnosis. Currently the treatment choices are limited and there are no targeted therapies available. CASE PRESENTATION: A 56-year-old male presented with shortness of breath, night sweats, and productive cough for a month. Workup revealed pericardial effusion and multiple bilateral pulmonary nodules suspicious for metastatic disease. Transthoracic echocardiogram showed a large pericardial effusion and a large mass in the base of the right atrium. Results of biopsy of bilateral lung nodules established a diagnosis of primary cardiac angiosarcoma. Aggressive pulmonary disease caused rapid deterioration; the patient went on hospice and subsequently died. Whole exome sequencing of the patient's postmortem tumor revealed a novel KDR (G681R) mutation, and focal high-level amplification at chromosome 1q encompassing MDM4, a negative regulator of TP53. CONCLUSION: Mutations in KDR have been reported previously in angiosarcomas. Previous studies also demonstrated that KDR mutants with constitutive KDR activation could be inhibited with specific KDR inhibitors in vitro. Thus, patients harboring activating KDR mutations could be candidates for treatment with KDR-specific inhibitors.

Open issues in transcatheter aortic valve implantation. Part 2: procedural issues and outcomes after transcatheter aortic valve implantation.

This article provides an overview on procedure-related issues and uncertainties in outcomes after transcatheter aortic valve implantation (TAVI). The different access sites and how to select them in an individual patient are discussed. Also, the occurrence and potential predictors of aortic regurgitation (AR) after TAVI are addressed. The different methods to quantify AR are reviewed, and it appears that accurate and reproducible quantification is suboptimal. Complications such as prosthesis-patient mismatch and conduction abnormalities (and need for permanent pacemaker) are discussed, as well as cerebrovascular events, which emphasize the development of optimal anti-coagulative strategies. Finally, recent registries have shown the adoption of TAVI in the real world, but longer follow-up studies are needed to evaluate the outcome (but also prosthesis durability). Additionally, future studies are briefly discussed, which will address the use of TAVI in pure AR and lower-risk patients.

Open issues in transcatheter aortic valve implantation. Part 1: patient selection and treatment strategy for transcatheter aortic valve implantation.

An exponential increase in the use of transcatheter aortic valve implantation (TAVI) in patients with severe aortic stenosis has been witnessed over the recent years. The current article reviews different areas of uncertainty related to patient selection. The use and limitations of risk scores are addressed, followed by an extensive discussion on the value of three-dimensional imaging for prosthesis sizing and the assessment of complex valve anatomy such as degenerated bicuspid valves. The uncertainty about valvular stenosis severity in patients with a mismatch between the transvalvular gradient and the aortic valve area, and how integrated use of echocardiography and computed tomographic imaging may help, is also addressed. Finally, patients referred for TAVI may have concomitant mitral regurgitation and/or coronary artery disease and the management of these patients is discussed.

Fatal Acute Myocardial Infarction With Normal Epicardial Coronary Arteries Shortly Following COVID-19 Vaccination.

Myocarditis and acute myocardial infarction (AMI) have been reported after COVID-19 messenger ribonucleic acid vaccination. Nearly all reported patients with myocarditis or AMI after COVID-19 vaccination have survived and become asymptomatic. Described herein is a previously healthy man who developed severe heart decompensation shortly after receiving a COVID-19 vaccination and died approximately 40 hours later. An autopsy disclosed massive AMI.

[Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes]. / Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación.

This consensus of nomenclature and classification for congenital bicuspid aortic valve and its aortopathy is evidence-based and intended for universal use by physicians (both pediatricians and adults), echocardiographers, advanced cardiovascular imaging specialists, interventional cardiologists, cardiovascular surgeons, pathologists, geneticists, and researchers spanning these areas of clinical and basic research. In addition, as long as new key and reference research is available, this international consensus may be subject to change based on evidence-based data1.

Este consenso de nomenclatura y clasificación para la válvula aórtica bicúspide congénita y su aortopatía está basado en la evidencia y destinado a ser utilizado universalmente por médicos (tanto pediatras como de adultos), médicos ecocardiografistas, especialistas en imágenes avanzadas cardiovasculares, cardiólogos intervencionistas, cirujanos cardiovasculares, patólogos, genetistas e investigadores que abarcan estas áreas de investigación clínica y básica. Siempre y cuando se disponga de nueva investigación clave y de referencia, este consenso internacional puede estar sujeto a cambios de acuerdo con datos basados en la evidencia1.

Origin of the Right Coronary Artery From the left Sinus of Valsalva in a Donor Heart With Unsuccessful Repair.

Described herein is a 62-year-old man who had orthotopic heart transplantation (OHT) because of severe heart failure secondary to idiopathic dilated cardiomyopathy. Because of continued symptoms of heart failure, a coronary angiogram was performed 3 years after the OHT and it showed anomalous origin of the right coronary artery (RCA) from the left sinus of Valsalva. As a consequence, an operation was performed to transfer the origin of the RCA to the right sinus of Valsalva. Unfortunately, the lumen of the RCA clotted off shortly after the operative procedure. Because of clinical evidence of rejection, the donor heart was replaced 4 years later providing the opportunity to study the previously transferred anomalous RCA.

Mitral Valve Replacement for Mitral Stenosis Secondary to Massive Mitral Annular Calcium.

Mitral annular calcium (MAC) may produce mitral stenosis (MS) if its quantity is massive. We define massive MAC as the presence of a huge quantity of calcium underlying the posterior mitral leaflet and extending across all or nearly all of the ventricular aspect of the anterior mitral leaflet. This report was prompted to emphasize the hazards of performing mitral valve replacement in patients with MS secondary to massive MAC. The clinical data and morphology of the operatively excised mitral valves from the 11 patients who had mitral valve replacement for MS secondary to massive MAC are described. Of the 11 patients, 6 died postoperatively, 5 of whom had 4+/4+ MAC. The high mortality in these patients suggests that the decision to perform mitral valve replacement needs to be carefully considered if the quantity of MAC is massive.

Giant-Cell Myocarditis, Cardiac Sarcoidosis, and Orthotopic Heart Transplantation.

Described herein are 2 patients diagnosed clinically as "giant cell myocarditis." Both had short clinical courses (∼ 2 months) before lifesaving orthotopic heart transplantation (OHT). Examination of the hearts disclosed multiple widespread yellow lesions in the ventricular walls. The short clinical courses in these 2 patients are quite different from cardiac sarcoidosis, which typically has courses lasting years. In contrast to cardiac sarcoidosis, the ventricular myocardial lesions were yellow in color not white as in cardiac sarcoidosis. In conclusion, we consider giant-cell myocarditis and cardiac sarcoidosis to be different conditions and not simply different stages of the same condition.

Severe Heart Failure Resulting From Healed Myocardial Infarction Preferentially Involving the Ventricular Septum and Leading to Orthotopic Heart Transplantation.

Described herein are 4 patients who underwent orthotopic heart transplant (OHT) because of heart failure caused by acute myocardial infarcts which healed. These healed infarcts were the result of preferential severe narrowing of the left anterior descending coronary artery. In all 4 cases, the myocardial infarct caused severe scarring of the ventricular septum (VS), more than that observed in the left ventricular free wall where most myocardial infarcts secondary to coronary artery narrowing typically occur.

Massively Hypertrophied Right-Sided Heart with Hypoplastic Left-Sided Heart in a Neonate (A Rare Type of Hypertrophic Cardiomyopathy).

Described herein is a newborn boy with likely right-sided hypertrophic cardiomyopathy (HC), who survived for 18 hours after birth. At necropsy, he had a severely thickened right ventricular free wall, ventricular septum, right atrial wall and a hypoplastic left-sided heart. There was a large fossa ovale type atrial septal defect and also a patent ductus arteriosus. During peak systole, the right ventricular outflow tract was obstructed, and its contents were pushed into the thick-walled right atrium, then rapidly into the thin-walled left atrium via a large fossa ovale atrial septal defect. The contents were then pushed into the thin-walled left ventricle and finally into the small ascending aorta and into the lungs via a large patent ductus arteriosus. We were unable to find a similar published case.

Examination of Non-Infected Operatively-Excised Bioprostheses in the Aortic Valve Position to Determine the Reason for their Dysfunction.

Described herein are findings in 55 non-infected bioprostheses that had been in the aortic valve position from 2 to 276 months (mean 107). The major purpose of this study was to illustrate the variable causes prompting excision of the bioprostheses. Fifty-three (96%) patients survived ≥ 30 days following the bioprosthetic excision and 50 (91%) patients lived ≥1 year postoperatively. The techniques used to explant the bioprostheses appear to vary considerably among the operating surgeons.

Causes of Malfunction of Bioprostheses Inserted Percutaneously in the Aortic Valve Position in Patients Whose Native Aortic Valve Was Congenitally Bicuspid and Stenotic.

Transcatheter aortic valve implantation (TAVI) has brought in recent years relief of cardiac-induced symptoms to a large number of patients with aortic stenosis. Whether it is better to use TAVI for the treatment of aortic valve stenosis superimposed on a congenitally bicuspid valve has been debated in contrast to its proved usefulness in aortic valve stenosis involving a tricuspid aortic valve. From January 2020 to March 2023, surgical aortic valve replacement of TAVI valve and native aortic valve was done in 6 patients. The clinical findings of the patients and morphologic findings from the surgical specimens submitted to the cardiac pathology department were subsequently examined. All the 6 native aortic valves had bicuspid configuration. The TAVI valve in each patient was excised from 9 to 88 months (mean 36 months) after it had been implanted because of paravalvular leak in 4, severe stenosis of the prosthetic valve in 1, and bioprosthetic cuspal degeneration in 1. Prosthetic valve endocarditis was clinically suspected in 2 patients, but the specimen culture was negative. Before surgical aortic valve replacement, 3 patients experienced stroke after TAVI. All 6 patients had low hemoglobin levels (mean 9.5 mg/100 ml) and low hematocrit levels (mean 29.5%). Reticulocyte count was available in 4 patients and was increased in all (mean 3.5%). When the stenotic native aortic valve configuration is bicuspid, the raphe tends to be calcified first and located perpendicular to the flow of the blood and may prevent the ring of the caged bioprosthesis from being transferred to the aortic wall, which is a requirement for full opening of the lumen of the bioprosthesis. Thus, thorough consideration needs to be made before performing TAVI in patients whose native aortic valve is stenotic and bicuspid.

Significance of myocardium within the inflow cannula of a left ventricular assist device.

Described herein is a 61-year-old man who underwent replacement of a left ventricular assist device that had been in place for 54 months. A small mass was attached to the margin of the excised metallic inflow cannula of the left ventricular assist device. Histologically, the mass was found to contain myocardium.

Combined Cardiovascular Syphilis and Aortic Valve Stenosis (Due to a Congenitally Unicuspid Valve).

Described herein is a 53-year-old man who underwent resection of a fusiform aneurysm of the ascending aorta, and excision of a congenitally malformed stenotic unicuspid aortic valve. Examination of the wall of the aortic aneurysm disclosed classic features of syphilis. Although some degree of pure aortic regurgitation is common in patients with aortic syphilis, the presence of associated aortic valve stenosis, such as occurred in this patient, has been mentioned in only 4 previous publications, none of which included morphologic examination of the ascending aorta or aortic valve.

Massive Calcification of the Ascending Aorta Secondary to Irradiation for Hodgkin's Disease Decades Earlier in Association with Aortic Valve Stenosis.

Described herein are findings in 2 men who developed massively calcified non-dilated ascending aortas decades after receiving mediastinal irradiation for treatment of Hodgkin's disease associated with aortic valve stenosis. The quantity of the intimal aortic calcium was remarkable and much greater than in other aortic conditions. The ascending aorta had to be excised in one patient in order to replace the stenotic aortic valve. The other patient underwent percutaneous transluminal aortic valve implantation.

Cardiac Findings at Necropsy in Acute Type A Aortic Dissection.

Described herein are necropsy findings in 97 patients aged 22 to 82 years (mean 55), 37 women, 60 men, studied at necropsy with acute aortic dissection (AD) with the intimal-medial tear in the ascending aorta. The cases were studied from 1966 to 1989, a period when echocardiography and computed tomography were relatively infrequently available for diagnosis of AD. Arteriography was the method for diagnosis in most cases. Of the 97 cases, 30(31%) had operative intervention and 67 did not. Most appeared to have had systemic hypertension before the acute AD; only 4 had previous heart failure; only 8 had considerable atherosclerotic coronary disease; only 4 had a left ventricular (LV) scar and in each it was small; most (96%) had a normal-sized LV cavity (suggesting normal cardiac indices in them), and the other 4 had only a mildly dilated cavity; the heart weight in all 97 patients was increased; the quantity of subepicardial adipose tissue was increased in most patients, and the frequency of a congenitally malformed aortic valve was much higher than in the general population (6% - vs- 1%), but still uncommon. Thus, in > 90% of patients with acute Type A AD, coronary atherosclerosis was insignificant, myocardial fibrosis is absent, and the aortic valve has 3 cusps without stenosis.

Aortic Valve Replacement for Active Infective Endocarditis Limited to the Native Aortic Valve.

Described herein are certain clinical and morphologic findings in 27 patients who underwent aortic valve replacement (AVR) for active infective endocarditis (IE) limited to the aortic valve. The major focus was to describe and illustrate the operatively-excised aortic valves. The aortic valves were tricuspid in 17 patients, and in each of them the infection appeared to involve a previously normal valve as evidenced by the cusps being entirely normal in areas where vegetation was not present. The infection in the tricuspid valves produced considerable regurgitation. Of the 10 patients in whom the IE involved a congenitally bicuspid valve, 3 were considerably calcified and stenotic before the IE occurred and the IE produced ring abscess in each of these 3 patients. In contrast, ring abscess occurred in only 1 of the 17 patients with tricuspid aortic valves. The cuspid tissue in the other 7 patients with bicuspid valves was either minimally scarred, entirely normal, and free of calcific deposits.

Active infective endocarditis of both aortic and pulmonic valves in association with ventricular septal defect treated with double valve replacement and closure of the defect.

Described herein is a 29-year-old man with a ventricular septal defect who developed active infective endocarditis on both his pulmonic and aortic valves. We found only six previously reported cases partially similar to ours.